Neues aus der Reproduktionsmedizin Wilfried
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Neues aus der Reproduktionsmedizin Wilfried Feichtinger, Gyndolomiti 2016 NON-INVASIVE PREIMPLANTATION GENETIC SCREENING (PGS) How the idea started... Blastocoel-puncture Ongoing investigation: PBD, Blastocoel-Fluid, and Culture Medium in Comparison using DNAAmplification and CGH-Analysis for PGS in patients who had at least 3 unsuccessful IVF attempts or 3 previous miscarriages (according to the Austrian law) Methods Both the aspirated blastocoel-fluids as well as the culture media of blastocysts underwent DNA amplification in our laboratory. The genomic DNAs were amplified from 10 µl of spent culture medium, and 0,1µl of blastocoele fluid using the SurePlex WGA kit (Rubicon Genomics, USA) according to manufacturer’s procedure. The amplified material was sent to a specialized genetics laboratory for Array Comparative Genomic Hybridisation PBD was performed according to a similar standard procedure by the same laboratory. Results So far we have successfully amplified DNA from 6/11 samples of blastocoel-fluid and from 22/24 samples of spent culture media. Some of this material has been analyzed by CGH Amplifyability Culture Medium 22 / 24 (91,6 %) CGH Culture Medium There was concordance of PBD with culture medium in 13 out of 15 analyses (86,66 %) for aneuploidy And 10/15 (66,7 %) for single chromosomes! Limitations Misdiagnose & confusion with maternal cells? Sexing can give certainty (in case y-chromosome is present) 46 XX remains unclear Legally unclear? For PGS only? (No experience so far for PGD, single gene disorders, translocations, etc.) Prospective multicenter-study Planned, and under way Conclusion Non – invasive PGS is possible and seems to be very promising Co-partners S. Palini, Cattolica, IT L. Carli Institut für medizinische Genetik der MUW E. Vaccari HLN Genetik GmbH Wien U. Maedel E. Feichtinger Eizellspende erlaubt IVF mit Samenspende erlaubt PID erlaubt KIWUBehandlung lesbischer Paare erlaubt Reformbedarf “Totes Recht”
